Hiya all,
I have not posted for a while.
So here goes...
They have established that they are looking for VLCAD. I have posted some info below.
Very long-chain acyl-coenzyme A dehydrogenase deficiency:
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with very long-chain acyl-coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme that metabolizes a group of fats called very long-chain fatty acids.
Typically, initial signs and symptoms of this disorder occur during infancy or childhood and include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. People with an early onset of very long-chain acyl-coenzyme A dehydrogenase deficiency are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. Symptoms that begin in adolescence or adulthood tend to be milder and usually do not involve heart problems. Episodes of very long-chain acyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting, illness, and exercise.
My ladies have had loads of stuff done. Kidney Scans/Liver Scans/Biopsy. The 'D' day for the results was suppose be June 8th. However, some of the tests were not complete and due to the WW2 Bomb the appointment was moved until 18 August!
My little bunnies are due to start school in Sept and at the moment with the sicknesses that have been around, have spent most days at home with me - and the lack of sleep is killing me!
We have had to instigate an emergency feeding regime of every 2 hours day and night, with a glucose substitute Maxijul, provided from the hospital.
We have informed the new school and the 'special needs' counsellor and also the welfare contact - after all she will be banging on our door very quickly due to their lack of attendance due to illness.
What really got me about the welfare contact was she said that if the girls could not come to school due to prolonged sickness, then they would send the work home! I am all in favour of this, but the point she missed was have you ever tried to teach two children who have been woken up every two hours during the night, forced to drink 120 of a solution? They are not fit for anything as they are sleep deprived...not to mention my brain being fried! I have such large black bags, one of my friends was concerned I have black eyes. I am walking around feelign like they thing my dear husband is a wife abuser.....!!
Our local hospital (childrens A&E) are still none the wiser about this condition(despite us giving the information to contact the team in St. Thomas's and the contact numbers - which they didnt do). We have been asked by St Thomas's to take the kids there in event of an issue. My problem is that if we need serious medical assistance, (ie blue lights), they will only take us to our local hospital and not St Thomas's.
We have had a impromptu test of this process and found ourselves being the knowledge for the staff and they refused to do the correct tests necessary, they discharged my daughter to home, even though tests at St. Thomass the next day proved we had an issue.
I feel I am banging my head against the wall. I have contacted the medical advice team for the NHS to enquire if I am able to ask ambulance crews to take us to St Thomass, and they have said they will only take us to the hospital from hell....!!
Sorry to rant but lack of sleep and major stress is causing me to fall apart!
Why do the medical fraternity no listen? Why is everything just so hard to do?
Nic
x